ZMP
ATP9A
Ensembl ID:
Description:
ATPase, class II, type 9A [Source:HGNC Symbol;Acc:13540]
Human Orthologue:
ATP9A
Human Description:
ATPase, class II, type 9A [Source:HGNC Symbol;Acc:13540]
Mouse Orthologue:
Atp9a
Mouse Description:
ATPase, class II, type 9A Gene [Source:MGI Symbol;Acc:MGI:1330826]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37773 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa18345 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37773
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000124730 | Essential Splice Site | 394 | 1042 | 12 | 31 |
Genomic Location (Zv9):
Chromosome 23 (position 39097287)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 39279171 |
GRCz11 | 23 | 38992749 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATACCAGAGCAGCTGGGCCGCATCTCTTATCTGCTCACGGACAAAACCGG[T/A]ATGATTGAATTCAACTCTGAACACAAAATCTGCATCTGTGTTGATAGCAG
Long Flanking Sequence:
AATGCAAATTCAAATACAGAAATTCATTGCCATTTAACATATTGCATTGCCATTTTGCATATTACATTTTGAATTGAATTATGCTACTCGTATGCTTCCATATTTCACTGGCAGAATGCTACAAAACGCTATTGGCCGTTTTTTTTTAAAGGGGAGGGGCTACTGTATGCCCCACCCTCTATTATTATTTTGTTTAGTTGAGATTATATCAAACATCAAATAAAAAAAATGCACATTTCAAAAGACTGCACAGGACCTTTAAAGATTATGAGAGCATGTAAATTAAAAAAAGCAAGAATAAATCAACTAAAAGATACAGCAAAACTTACTTTAACAATTTTTTTTTTCTTTTCCAGTCTGCGTGTGAATTTGGACATGGGCAAAATGGTGTTCAGTTGGATGATAAAGAAAGACTCTAAAATCCCCGGGACGGTGGTTCGAGCTAGTACTATACCAGAGCAGCTGGGCCGCATCTCTTATCTGCTCACGGACAAAACCGG[T/A]ATGATTGAATTCAACTCTGAACACAAAATCTGCATCTGTGTTGATAGCAGCTAAAGCTGACAGAGATTTTAGTAGGATTCTTGATGCACTTAGCCTACATTTGTATAACCCGGCATATAAATGTTCAGGATAAAACATTGAAAATGAAAACTTTTAATAATTTTTAATAGCAGGATAATAATTTTTCTTAACAGTTTTAGAATGATTTTTGAGTGATTTAGCTAATGAATCTTAGTTAGGCTTAGTTCACTTAAGATTCAGTTCAGCTCAGTATGAATGTCATTGTTTAGTAATGTGATGTAACTACCTAGCAACTCCTAAGCAACTATCTTAGCAACAACAAAGCAGTGTAAAGTCTAGAAGGGATACATCTGCAGATACTCACATCAGTGTAGCATCGTTTTTGTGACACTGTGCAACAATAATTAATATCGGTATAATTACTGTTTTACATTACTGTGAGGGTTGGGTTTAAGGTAGGGGTAGACATTAATGAAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18345
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000124730 | Essential Splice Site | 432 | 1042 | 14 | 31 |
Genomic Location (Zv9):
Chromosome 23 (position 39106912)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 39288796 |
GRCz11 | 23 | 39002374 |
KASP Assay ID:
2261-8152.1 (used for ordering genotyping assays)
KASP Sequence:
TTWTATTYAAAGACCTGGAACAGCACAGTCACTCATGTTTGATTCTCACA[G/A]CCTCCTCAGGACCTGCAGGCGTCTCGAGCWCCAGGCGCCACTAAAGTGAG
Long Flanking Sequence:
ATGTTACCCTTCACTGTATAACCAGCCTGTTTAGAAAATCCAATCACAAAAGCACAATTGTTCAGCTTTTTTGTCCAGAAGTCCTTGTAAAAGGAGTCTCTTTCACCTCTGGCTGATGTTTTGTCCATTTGACACCAGAGGTCATCGAGTCAGGAAACCGGGTTACTAGTACCAGTTATAGCTTATATACGAACTTACACACCGCCATTAGCCCTCGGAAATGTGCATGCTATAAATAGTAGCTCAGCGTTAAAGGTAATTGTTCATATATGAAACACATCTGGGAGCGTTTATGAGTCCTTTTTCAGGATATTAGCAAGAGGCTCGCTTTATTAGCAATCACAGAATGTGGAGGTTTAATCATTATGTCAAAAGTGCTGGTTTTTTGTTTTGGTTATAGAGTCAAAGTAATGAGGATGACTCTTTATAAATAAATTCTTCATCTTTGCATTATATTCAAAGACCTGGAACAGCACAGTCACTCATGTTTGATTCTCACA[G/A]CCTCCTCAGGACCTGCAGGCGTCTCGAGCACCAGGCGCCACTAAAGTGAGGAAGACCATCAGCAGTCGCGTTCACGAGGCAGTGAAGGCCATCGCTCTGGTGCACAACGTCACTCCGGTATACGAGGCCAACGGCGTGACGGATCAGGCTGAGGCCGAACAACACTATGAGGACACGTGCAGGGTTTACCAGGCCTCCAGTCCAGACGAGGTACTGCCGAAATCAGGCCATTCATTCACAAATCTATAAAAATGCTTAGAGACAATTTATTTTTATGTATAATTCACTGTATTAACAAACAATTAACTAAGAGTTTTAGATCAATAAACTACTAATTTATACATACTATGTATATAGTATGTACTAATACATACATACATATATGTATATATATACATACATATATATATATATATATATATATATATATAAATATATATATATATATATATAAATATATATATATATATATATATATATATTTGCATGAAGCTAAATAG
Associated Phenotype:
Not determined